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Understanding Epilepsy Genetics

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Category Archives: SLC12A5

Publications of the week – SCN1A in encephalopathy after febrile seizures, SLC12A5/KCC2 in MMPSI

Posted on September 4, 2015 by Ingo Helbig

Issue 14/2015. This week’s publications of the week are about a novel phenotype consisting of persistent encephalopathies with MRI findings associated with SCN1A and SCN2A mutations, a novel gene for Malignant Migrating Partial Seizures of Infancy (MMPSI). Continue reading →

Posted in SCN1A, SCN2A, SLC12A5
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autism autosomal recessive disorders CACNA1A CDKL5 CHD2 CNV de novo mutations DEPDC5 DNM1 Dravet Syndrome Epi4K epilepsy epilepsy gene epilepsy genetics epileptic encephalopathy EuroEPINOMICS exome exome sequencing febrile seizures GABRA1 GABRG2 GEFS+ genetic architecture genome sequencing GRIN2A GWAS Idiopathic Generalized Epilepsy IGE Infantile Spasms intellectual disability juvenile myoclonic epilepsy KCNQ2 KCNT1 microdeletion precision medicine rare variants science SCN1A SCN1B SCN2A SCN8A STXBP1 SYNGAP1 whole exome sequencing whole genome sequencing

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